Phenotype #0000255391

Individual ID	00359986
Associated disease	-
Phenotype details	visual acuity was correctable to 201/0 - 1 in the right eye with a refraction of -3.25 +0.25 and to 20/30 - 2 in the left eye with a refraction of -3.25 +0.75. Results of slit-lamp examination of the cornea, anterior chamber, and lenses were normal. Applanation pressures were 14 mmHg in each eye. The fundus examination showed a normal optic disc and retinal vessels. A small degree of peripapillary atrophy of the retinal pigment epithelium was seen. There was bilateral blunting of the foveal reflexes. Anterior to the retinal vascular arcades, there was a nonspecific blotchy hypopigmentation of the retinal pigment epithelium. The peripheral retina did not show any hypopigmentation or pigment clumping.
Diagnosis/Initial	cone dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	67y
Phenotype/Onset	-
Protein	-
Owner name	Manon Peeters
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-06 16:50:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD